未登录Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities
Szymanska, Edyta; Szymanska, Sylwia; Truszkowska, Grazyna; Ciara, Elzbieta; Pronicki, Maciej; Shin, Yoon S.; Podskarbi, Teodor; Kepka, Alina; Spiewak, Mateusz; Ploski, Rafal; Bilinska, Zofia T.; Rokicki, Dariusz .png)
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收藏分享 收藏 Multiple Phenotypes in Phosphoglucomutase 1 Deficiency磷酸葡萄糖变现酶1缺乏症的多种表型Tegtmeyer, L. C.; Rust, S.; van Scherpenzeel, M.; Ng, B. G.; Losfeld, M. -E.; Timal, S.; Raymond, K.; He, P.; Ichikawa, M.; Veltman, J.; Huijben, K.; Shin, Y. S.; Sharma, V.; Adamowicz, M.; Lammens, M.; Reunert, J.; Witten, A.; Schrapers, E.; Matthijs, G.; Jaeken, J.; Rymen, D.; Stojkovic, T.; Laforet, P.; Petit, F.; Aumaitre, O.; Czarnowska, E.; Piraud, M.; Podskarbi, T.; Stanley, C. A.; Matalon, R.; Burda, P.; Seyyedi, S.; Debus, V.; Socha, P.; Sykut-Cegielska, J.; van Spronsen, F.; de Meirleir, L.; Vajro, P.; DeClue, T.; Ficicioglu, C.; Wada, Y.; Wevers, R. A.; Vanderschaeghe, D.; Callewaert, N.; Fingerhut, R.; van Schaftingen, E.; Freeze, H. H.; Morava, E.; Lefeber, D. J.; Marquardt, T. 分享 收藏 Unclassified polysaccharidosis of the heart and skeletal muscle in siblings (vol 95, pg 52, 2008)Schoser, Benedikt; Bruno, Claudio; Schneider, Hans-Christian; Shin, Yoon S.; Podskarbi, Teodor; Goldfarb, Lev; Mueller-Felber, Wolfgang; Mueller-Hoecker, Josef 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Adult polyglucosan body disease -: A postmortem correlation studySindern, E; Ziemssen, F; Ziemssen, T; Podskarbi, T; Shin, Y; Brasch, F; Müller, KM; Schröder, JM; Malin, JP; Vorgerd, M 分享 收藏 Mutation analysis in glycogen storage disease type 1 non-aJanecke, AR; Lindner, M; Erdel, M; Mayatepek, E; Möslinger, D; Podskarbi, T; Fresser, F; Stöckler-Ipsiroglu, S; Hoffmann, GF; Utermann, G 分享 收藏 分享 收藏 分享 收藏 
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